Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which encodes the nucleolar phosphoprotein Treacle. Haploinsufficiency of Tcof1 perturbs mature ribosome biogenesis, resulting in stabilization of p53 and the cyclin G1–mediated cell...

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書誌詳細
主要な著者: Jones, Natalie C, Lynn, Megan L, Gaudenz, Karin, Sakai, Daisuke, Aoto, Kazushi, Rey, Jean-Phillipe, Glynn, Earl F, Ellington, Lacey, Du, Chunying, Dixon, Jill, Dixon, Michael J, Trainor, Paul A
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3093709/
https://ncbi.nlm.nih.gov/pubmed/18246078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm1725
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